Clinical Course and Long-Term Prognosis of Patients with Recessive Dystrophic Epidermolysis Bullosa in Korea: A Longitudinal, Retrospective Single-Center Study / 대한피부과학회지

ABSTRACT

Background@#Recessive dystrophic epidermolysis bullosa (RDEB) manifests in various cutaneous and extracutaneous complications that lead to considerable morbidity and mortality, however, no precise incidence data are available. @*Objective@#To investigate the prevalence of inherited epidermolysis bullosa (EB) stratified by subtypes, demographics, and clinical characteristics in Korean patients with EB, and major clinical events and outcomes in Korean RDEB patients. @*Methods@#A total of 179 patients diagnosed with EB at a single tertiary hospital between January 2005 and January 2020 were retrospectively analyzed. @*Results@#Among the 179 patients, 86 (48.0%) had EB simplex, 45 (25.1%) had dominant dystrophic EB, 38 (21.2%) had RDEB, and 10 (5.6%) had juncttional EB. Symptoms of the disease were present at age 1 year in 38 patients with RDEB (100%), 10 with junctional EB (100%), 41 with dominant dystrophic EB (91.1%), and 63 with EB simplex (73.3%). Among the 38 patients with RDEB, 20 (52.6%) had anemia, 21 (55.3%) had pseudosyndactyly, 9 (23.7%) had cardiac disorder (23.7%) (e.g., dilated cardiomyopathy), 9 (23.7%) had ophthalmic disorders, 11 (28.9%) had methicillin-resistant Staphylococcus aureus skin infection, 7 (18.4%) had esophageal stricture, and 4 (10.5%) developed squamous cell carcinoma at a mean age of 46.7 years. Seventeen subjects (44.7%) underwent hand/foot surgery at a mean age of 6.6 years. Six subjects (15.8%) underwent esophageal dilation at a mean age of 23 years. Five patients (13.2%) died. @*Conclusion@#RDEB affects multiple organ systems and requires a multidisciplinary therapeutic approach. Understanding the incidence and outcomes of milestone clinical events is crucial for optimal management of RDEB patients.